Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease

2.50
Hdl Handle:
http://hdl.handle.net/11287/596594
Title:
Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease
Authors:
Muggenthaler, Martina; Petropoulou, E.; Omer, S.; Simpson, M.A.; Sahak, H.; Rice, A.; Raju, H.; Conti, F.J.; Bridges, L.R.; Anderson, L.J.; Sharma, S.; Behr, E.R.; Jamshidi, Y.
Citation:
Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease 2016 May 1;210:41-4 International Journal of Cardiology
Publisher:
Elsevier
Journal:
International Journal of Cardiology
Issue Date:
13-Feb-2016
URI:
http://hdl.handle.net/11287/596594
DOI:
10.1016/j.ijcard.2016.02.082
PubMed ID:
26922712
Additional Links:
http://linkinghub.elsevier.com/retrieve/pii/S0167527316302145
Type:
Journal Article
Language:
en
ISSN:
01675273
Appears in Collections:
Honorary contracts publications; 2016 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorMuggenthaler, Martinaen
dc.contributor.authorPetropoulou, E.en
dc.contributor.authorOmer, S.en
dc.contributor.authorSimpson, M.A.en
dc.contributor.authorSahak, H.en
dc.contributor.authorRice, A.en
dc.contributor.authorRaju, H.en
dc.contributor.authorConti, F.J.en
dc.contributor.authorBridges, L.R.en
dc.contributor.authorAnderson, L.J.en
dc.contributor.authorSharma, S.en
dc.contributor.authorBehr, E.R.en
dc.contributor.authorJamshidi, Y.en
dc.date.accessioned2016-02-18T09:27:00Zen
dc.date.available2016-02-18T09:27:00Zen
dc.date.issued2016-02-13en
dc.identifier.citationWhole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease 2016 May 1;210:41-4 International Journal of Cardiologyen
dc.identifier.issn01675273en
dc.identifier.pmid26922712en
dc.identifier.doi10.1016/j.ijcard.2016.02.082en
dc.identifier.urihttp://hdl.handle.net/11287/596594en
dc.language.isoenen
dc.publisherElsevieren
dc.relation.urlhttp://linkinghub.elsevier.com/retrieve/pii/S0167527316302145en
dc.rightsArchived with thanks to International Journal of Cardiologyen
dc.subjectWessex Classification Subject Headings::Cardiologyen
dc.titleWhole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage diseaseen
dc.typeJournal Articleen
dc.identifier.journalInternational Journal of Cardiologyen
dc.type.versionIn press (epub ahead of print)en

Related articles on PubMed

All Items in RD&E Research Repository are protected by copyright, with all rights reserved, unless otherwise indicated.